HUWE1 wt Allele

Preferred Label : HUWE1 wt Allele;

NCIt synonyms : HSPC272; HECT, UBA and WWE Domain Containing E3 Ubiquitin Protein Ligase 1 wt Allele; URE-B1; MRXST; UREB1; Ib772; LASU1; HECTH9; MULE; KIAA0312; KIAA1578; HECT, UBA and WWE Domain Containing 1, E3 Ubiquitin Protein Ligase Gene; ARF-BP1;

NCIt definition : Human HUWE1 wild-type allele is located in the vicinity of Xp11.22 and is approximately 155 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HUWE1 protein, plays a role in the ubiquitination and proteasomal degradation of target proteins involved in apoptosis, tumor suppression, chromatin remodeling and DNA replication and repair. Mutations in the gene are associated with Turner type X-linked syndromic cognitive disability.;

NCI Metathesaurus CUI : CL1664702;

GenBank Accession Number : AB071605;

Details

Origin ID

C181820;

UMLS CUI

C5551051;

Automatic exact mappings (from CISMeF team)
- Equus asinus (male) X Equus caballus (female) intragenus hybrid (organism) [SNOMED CT concept]
- HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [ORDO Gene]
- Hect, uba, and wwe domains-containing protein 1 [OMIM gene]
- Intellectual developmental disorder, X-linked, syndromic, turner type [OMIM Phenotype]
- Mules (physical object) [SNOMED CT concept]
- equidae [MeSH Descriptor]
- mule [SNOMED Notion]
- mules [MeSH concept]
- syndromic X-linked intellectual disability Turner type [DO Concept]
OMIM relation
- Hect, uba, and wwe domains-containing protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.22 [NCIt concept]
gene_is_element_in_pathway
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
- p53 Pathway for Transcriptional Regulation [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- DNA Repair [NCIt concept]
- Protein Degradation Induction [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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